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PLA2G6-associated l...
PLA2G6-associated late-onset parkinsonism in a Sudanese family
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- Bakhit, Yousuf (författare)
- Univ Hosp Bonn, Dept Neurol, Bonn, Germany.;Univ Khartoum, Fac Dent, Dept Basic Med Sci, Khartoum, Sudan.;Univ Hosp Bonn, Dept Neurol, Sigmund Freud Str 25, D-53127 Bonn, Germany.
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- Tesson, Christelle O. (författare)
- Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Paris Brain Inst,Dept Neurol,ICM,Inserm,CNRS, Paris, France.
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- Ibrahim, Mohamed (författare)
- Univ Khartoum, Sudan Neurosci Projects, Khartoum, Sudan.;Sudan Univ Sci & Technol, Fac Med, Dept Biochem, Khartoum, Sudan.
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- Eltom, Khalid (författare)
- Uppsala universitet,Institutionen för medicinsk cellbiologi,Univ Khartoum, Sudan Neurosci Projects, Khartoum, Sudan
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- Eltazi, Isra (författare)
- Univ Khartoum, Soba Teaching Hosp, Dept Neurol, Khartoum, Sudan.;Univ Khartoum, Fac Med, Dept Med, Khartoum, Sudan.
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- Elsayed, Liena E. O. (författare)
- Princess Nourah Bint Abdulrahman Univ, Coll Med, Dept Basic Sci, Riyadh, Saudi Arabia.
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- Lesage, Suzanne (författare)
- Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Paris Brain Inst,Dept Neurol,ICM,Inserm,CNRS, Paris, France.
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- Seidi, Osheik (författare)
- Univ Khartoum, Soba Teaching Hosp, Dept Neurol, Khartoum, Sudan.;Univ Khartoum, Fac Med, Dept Med, Khartoum, Sudan.
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Corvol, Jean-Christophe (författare)
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- Wüllner, Ullrich (författare)
- Univ Hosp Bonn, Dept Neurol, Bonn, Germany.;German Ctr Neurodegenerat Dis DZNE, Bonn, Germany.;Univ Hosp Bonn, Dept Neurol, Sigmund Freud Str 25, D-53127 Bonn, Germany.
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Univ Hosp Bonn, Dept Neurol, Bonn, Germany;Univ Khartoum, Fac Dent, Dept Basic Med Sci, Khartoum, Sudan.;Univ Hosp Bonn, Dept Neurol, Sigmund Freud Str 25, D-53127 Bonn, Germany. Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Paris Brain Inst,Dept Neurol,ICM,Inserm,CNRS, Paris, France. (creator_code:org_t)
- John Wiley & Sons, 2023
- 2023
- Engelska.
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Ingår i: Annals of Clinical and Translational Neurology. - : John Wiley & Sons. - 2328-9503. ; 10:6, s. 983-989
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
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- IntroductionThe phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids. Four neurological disorders with infantile, juvenile, or early adult-onset are associated with PLA2G6 genetic alterations, namely infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), dystonia-parkinsonism (DP), and autosomal recessive early-onset parkinsonism (AREP). Few studies in Africa reported PLA2G6-associated disorders and none with parkinsonism of late adult onset.Material and MethodsThe patients were clinically assessed following UK Brain Bank diagnostic criteria and International Parkinson and Movement Disorder Society's Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Brain MRI without contrast was performed. Genetic testing was done using a custom-made Twist panel, screening 34 known genes, 27 risk factors, and 8 candidate genes associated with parkinsonism. Filtered variants were PCR-amplified and validated using Sanger sequencing and also tested in additional family members to study their segregation.ResultTwo siblings born to consanguineous parents developed parkinsonism at the age of 58 and 60 years, respectively. MRI showed an enlarged right hippocampus in patient 2, but no overt abnormalities indicative of INAD or iron deposits. We found two heterozygous variants in PLA2G6, an in-frame deletion NM_003560:c.2070_2072del (p.Val691del) and a missense variant NM_003560:c.956C>T (p.Thr319Met). Both variants were classified as pathogenic.ConclusionThis is the first case in which PLA2G6 is associated with late-onset parkinsonism. Functional analysis is needed to confirm the dual effect of both variants on the structure and function of iPLA2β.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
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Bakhit, Yousuf
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Tesson, Christel ...
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Ibrahim, Mohamed
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Eltom, Khalid
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Eltazi, Isra
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Elsayed, Liena E ...
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visa fler...
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Lesage, Suzanne
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Seidi, Osheik
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Corvol, Jean-Chr ...
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Wüllner, Ullrich
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